Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.I27I

SRSF1

349 papers

RefSeq Summary

This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its inter...

Pfam Domains

RRM_1aa 18–85UCSCRNA recognition motif
RRM_1aa 123–186UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 1

HGNC Previous Symbol

SFRS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006924.5
p.I27I
c.81C>A
Surrounding Variants
1 paper
NM_006924.5
p.I27I
c.81C>T
1 paper
NM_006924.5
p.I27M
c.81C>G
1 paper
NM_006924.5
p.R28*
c.82C>T
1 paper
NM_006924.5
p.I27delFs
c.81delG
1 paper
NM_006924.5
p.D26D
c.78C>T
1 paper
NM_006924.5
p.T29insFs
c.86_87insC
1 paper
NM_006924.5
p.P25S
c.73C>T
2 papers
NM_006924.5
p.P24L
c.71C>T
1 paper
NM_006924.5
p.E33*
c.97G>T
1 paper
NM_006924.5
p.E33K
c.97G>A
1 paper
NM_006924.5
p.E33insFs
c.98_99insA
1 paper
NM_006924.5
p.D34N
c.100G>A
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